A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4317259



Internal ID19838074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:19051673..20424293hg38UCSC Ensembl
chr13:19625813..20998432hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg381372621
hg191372620
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16090811
Samples
Known GenesANKRD26P3, CRYL1, GJA3, GJB2, GJB6, LINC00421, MPHOSPH8, PSPC1, RNU6-52P, TPTE2, TUBA3C, ZMYM2, ZMYM5
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4317259
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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